Aloulou Hajer, Ben Thabet Afef, Khanfir Sonia, Ben Mansour Lamia, Chabchoub Imen, Labrune Phillipe, Kammoun Thouraya, Hachicha Mongia
Service de pédiatrie CHU Hédi CHAKER DE SFAX.
Tunis Med. 2010 Oct;88(10):707-9.
Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate (UDP) glucuronosyltransferase activity in the liver.
To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia.
This is a retrospective report of Crigler Najjar cases who were hospitalised in pediatric department of Hédi Chaker hospital during 21 years (from 1st January to 31 December 2006).
Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males (sex ratio = 2). The mean age of our patients was 41 days (4 days - 9 months). All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases: -C1070>G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus.
Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage (bilirubin encephalopathy) and death. That's why we must promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country.
克里格勒-纳贾尔综合征是一种罕见的代谢紊乱疾病，其特征为严重的非结合性高胆红素血症，导致肝脏中胆红素尿苷二磷酸（UDP）葡萄糖醛酸基转移酶活性缺乏。
研究突尼斯1型克里格勒-纳贾尔综合征的临床、遗传治疗方面及预后。
这是一项对在赫迪·查克医院儿科住院21年（2006年1月1日至12月31日）的克里格勒-纳贾尔病例的回顾性报告。
我们的研究纳入了30例克里格勒-纳贾尔综合征病例；其中10例为女性，20例为男性（性别比 = 2）。我们患者的平均年龄为41天（4天 - 9个月）。所有患者均出现严重黄疸。16例患者自入院起就有神经系统疾病。对9例患者进行了基因分析；我们在所有病例中均鉴定出相同的突变：UDP葡萄糖醛酸基转移酶外显子3中的-C1070>G。关于治疗措施，所有患者均采用了传统光疗。观察到28例患者预后不良；他们死于核黄疸。
克里格勒-纳贾尔综合征是一种严重疾病，若不治疗，最终会导致脑损伤（胆红素脑病）和死亡。这就是为什么我们必须推广产前诊断和遗传咨询，特别是考虑到我国近亲结婚的频率较高。
